R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.
作者： Catherine F. Slattery , Jonathan A. Beck , Lorna Harper , Gary Adamson , Zeinab Abdi
DOI: 10.1016/J.JALZ.2014.05.1751
关键词:
摘要: Abstract Background Rare TREM2 variants are significant risk factors for Alzheimer's disease (AD). Methods We used next generation sequencing of the whole gene (n = 700), exon 2 Sanger (n = 2634), p.R47H genotyping (n = 3518), and genome wide association study imputation (n = 13,048) to determine whether or phenotypic modifiers in patients with AD (n = 1002), frontotemporal dementia (n = 358), sporadic (n = 2500), variant (n = 115) Creutzfeldt-Jakob (CJD). Results confirm only as a factor (odds ratio OR = 2.19; 95% confidence interval CI = 1.04-4.51; P = .03). does not significantly alter (OR = 0.81), CJD (OR = 1.06 95%CI = 0.66-1.69) our cohorts. Individuals associated (n = 12) had earlier symptom onset than individuals no (n = 551) (55.2 years vs. 61.7 years, = .02). note that heterozygous is memory led otherwise indistinguishable from "typical" AD. Conclusion find AD, but prion disease.
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